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rs869320625

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869320625(C;T)
Make rs869320625(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position19243991
GeneEMC1
is asnp
is mentioned by
dbSNPrs869320625
ebirs869320625
HLIrs869320625
Exacrs869320625
Varsomers869320625
Maprs869320625
PheGenIrs869320625
hapmaprs869320625
1000 genomesrs869320625
hgdprs869320625
ensemblrs869320625
gopubmedrs869320625
geneviewrs869320625
scholarrs869320625
googlers869320625
pharmgkbrs869320625
gwascentralrs869320625
openSNPrs869320625
23andMers869320625
23andMe allrs869320625
SNP Nexus

SNPshotrs869320625
SNPdbers869320625
MSV3drs869320625
GWAS Ctlgrs869320625
Max Magnitude0
ClinVar
Risk rs869320625(T;T)
Alt rs869320625(T;T)
Reference rs869320625(C;C)
Significance Pathogenic
Disease Cerebellar atrophy not specified
Variation info
Gene EMC1
CLNDBN Cerebellar atrophy, visual impairment, and psychomotor retardation not specified
Reversed 1
HGVS NC_000001.10:g.19570485G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210379.1, RCV000235453.1,